Metabolic changes in DYT11 myoclonus-dystonia (Q36659593)

15 August 2017

Metabolic changes in DYT11 myoclonus-dystonia (English)

1 reference

15 August 2017

Rachel Saunders-Pullman

series ordinal

4

object named as

Rachel Saunders-Pullman

1 reference

15 August 2017

8

David Eidelberg

1 reference

15 August 2017

1

Maren Carbon

1 reference

15 August 2017

6

Vijay Dhawan

1 reference

15 August 2017

2

Deborah Raymond

1 reference

15 August 2017

3

Laurie Ozelius

1 reference

15 August 2017

7

Susan Bressman

1 reference

15 August 2017

Steven Frucht

5

1 reference

PMC publication ID

3589244

15 August 2017

language of work or name

English

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publication date

2 January 2013

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15 August 2017

7

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inferred from page(s)

published in

Neurology

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15 August 2017

80

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15 August 2017

4

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15 August 2017

385-391

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15 August 2017

Milestones in myoclonus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Genomic imprinting mechanisms in embryonic and extraembryonic mouse tissues

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Thalamocortical connections of functional zones in posterior parietal cortex and frontal cortex motor regions in New World monkeys

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Neurocircuitry of mood disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

The neurobiology of the dystrophin-associated glycoprotein complex.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Myoclonus-dystonia: an update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Transcriptome-wide identification of novel imprinted genes in neonatal mouse brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Imprinted gene expression in the brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Microstimulation reveals specialized subregions for different complex movements in posterior parietal cortex of prosimian galagos

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

The epsilon-sarcoglycan gene in myoclonic syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Identification and characterization of epsilon-sarcoglycans in the central nervous system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Complex movements evoked by microstimulation of the ventral intraparietal area

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Expression of imprinted genes in human preimplantation development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2D

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Blink reflex studies in focal dystonias: enhanced excitability of brainstem interneurons in cranial dystonia and spasmodic torticollis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Pallidal and thalamic deep brain stimulation in myoclonus-dystonia

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Life after survival: long-term daily functioning and quality of life after an out-of-hospital cardiac arrest

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Responsiveness to levodopa in epsilon-sarcoglycan deletions

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Auditory startle reaction in primary blepharospasm

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum?

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Post-hypoxic myoclonus induces Fos expression in the reticular thalamic nucleus and neurons in the brainstem

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Mixed-effects and fMRI studies.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Regional metabolism in primary torsion dystonia: effects of penetrance and genotype

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Metabolic correlates of levodopa response in Parkinson's disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Clinical characteristics and topography of lesions in movement disorders due to thalamic lesions

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

The metabolic topography of essential blepharospasm: a focal dystonia with general implications

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589244

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23284065

12 December 2020

inferred from PubMed ID database lookup

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23284065

12 December 2020

inferred from PubMed ID database lookup

Impaired saccadic adaptation in DYT11 dystonia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23284065

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/WNL.0B013E31827F0798

1 reference

15 August 2017

1 reference

PMC publication ID

3589244

15 August 2017

PubMed publication ID

23284065

1 reference

PMC publication ID

3589244